Esophageal adenocarcinoma

General Information (adopted from Orphanet):

Synonyms, Signs: BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS, INCLUDED
Number of Symptoms 12
OrphanetNr: 99976
OMIM Id: 614266
ICD-10: C15
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Esophageal carcinoma
 -Rare gastroenterologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
2
(HPO:0100749) Chest pain Frequent [Orphanet] 92 / 7739
3
(HPO:0100580) Barrett esophagus Very frequent [Orphanet] 4 / 7739
4
(HPO:0011459) Esophageal carcinoma 2 / 7739
5
(HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
6
(HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
7
(HPO:0100751) Esophageal neoplasm Very frequent [Orphanet] 8 / 7739
8
(HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
9
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
10
(HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
11
(HPO:0001428) Somatic mutation 100 / 7739
12
([DEL]MedDRA:10011224) Cough Frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The ...
Clinical Description OMIM Barrett (1950) described a patient with chronic ulcerating esophagitis in which columnar rather than squamous epithelium surrounded the ulcers. Allison and Johnstone (1953), followed by many others, showed that the columnar epithelium-lined intrathoracic structure is anatomically and functionally ...
Molecular genetics OMIM In a study of 116 patients of European descent with Barrett esophagus and/or esophageal adenocarcinoma, Orloff et al. (2011) identified rare germline mutations in 3 different genes. Candidate genomic regions were studied after being identified by genomewide linkage ...